Chronic Granulomatous Disease

Definition

Chronic granulomatous disease (CGD) is when a specific gene from both parents passes to the child. This gene causes phagocytic
cells to develop
abnormally
in the immune system. Phagocytic cells normally kill bacteria. With this disease, these cells cannot work properly. As a result, the body cannot fight some types of bacteria. It also makes infections likely to return.

CGD is a rare condition.

Causes

The disease is caused by one of 4 genes. Three of the genetic defects are recessive. This means 2 of these defective genes have to be present for the disease to develop—1 from each parent. The other gene is located on the X chromosome. It is transmitted from mother to son.

Risk Factors

CGD is more common in men.

Having parents who have the recessive trait increases a child's risk of CGD.

Symptoms

Typically, symptoms begin to appear in childhood. In some, they may not appear until the teen years.

Treatment

Talk with your doctor about the best plan for you. Treatment options include:

Medications

You doctor may prescribe antibiotics to prevent and treat infections.

Bone Marrow Transplantation

Bone marrow transplantation may be an option. A suitable donor will need to be found. It is a definitive cure.

Surgery

Surgery may involve the removal of abscesses.

Vaccines

Some live viral vaccines should be avoided. You should talk to your doctor before receiving one.

Prevention

CGD is an inherited disease. There are no preventive steps to reduce the risk of being born with the disease. Genetic counseling may be helpful. It can be used to detect carrier status in woman. Early diagnosis is vital. It will allow for early treatment. The bone marrow transplant donor search can also be started.

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.